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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:carotenemia
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Accession:DOID:9969 term browser browse the term
Definition:An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood. (DO)
Synonyms:exact_synonym: hypercarotinemia
 xref: ICD10CM:E67.1;   ICD9CM:278.3;   NCI:C26963


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Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bco1 beta-carotene oxygenase 1 ISO ClinVar Annotator: match by term: Hypercarotenemia and vitamin a deficiency, autosomal dominant OMIM
ClinVar
PMID:5453458 PMID:17951468 PMID:25741868 NCBI chrNW_004936475:28,859,222...28,890,407
Ensembl chrNW_004936475:28,859,318...28,889,934
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        acquired metabolic disease 2142
          carotenemia 1
            Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant 1
            Hypercarotenemia and Vitamin A Deficiency, Autosomal Recessive 0
paths to the root